Canonical Allele Identifier: CA413919968
Community Standard Title: NM_000169.3(GLA):c.1166C>G (p.Pro389Arg)
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101397933G>C , CM000685.2:g.101397933G>C GRCh38
NC_000023.10:g.100652921G>C , CM000685.1:g.100652921G>C GRCh37
NC_000023.9:g.100539577G>C NCBI36
NG_007119.1:g.15031C>G , LRG_672:g.15031C>G

Transcript Alleles

HGVS Amino-acid Change
NM_000169.3:c.1166C>G (GLA) MANE Select NP_000160.1:p.Pro389Arg
ENST00000218516.4:c.1166C>G (GLA) MANE Select ENSP00000218516.4:p.Pro389Arg
NM_000169.2:c.1166C>G , LRG_672t1:c.1166C>G (GLA) NP_000160.1:p.Pro389Arg
NM_001199973.1:c.408+2476G>C (RPL36A-HNRNPH2) NP_001186902.1:n.408+2476G>C
NM_001199973.2:c.300+2476G>C (RPL36A-HNRNPH2) NP_001186902.2:n.300+2476G>C
NM_001199974.1:c.285+6111G>C (RPL36A-HNRNPH2) NP_001186903.1:n.285+6111G>C
NM_001199974.2:c.177+6111G>C (RPL36A-HNRNPH2) NP_001186903.2:n.177+6111G>C
NR_164783.1:n.1245C>G (GLA)
ENST00000218516.3:c.1166C>G (GLA) ENSP00000218516.3:p.Pro389Arg
ENST00000409170.3:c.300+2476G>C (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2476G>C
ENST00000409338.5:c.177+6111G>C (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6111G>C
ENST00000466414.1:n.492C>G (GLA)
ENST00000466414.2:n.1302C>G (GLA)
ENST00000468823.2:n.2588C>G (GLA)
ENST00000479445.2:n.1780C>G (GLA)
ENST00000493905.6:c.*554C>G (GLA) ENSP00000476935.1:n.*554C>G
ENST00000649178.1:c.1289C>G (GLA) ENSP00000498186.1:p.Pro430Arg
ENST00000674127.1:c.1266C>G (GLA) ENSP00000501044.1:n.1266C>G
ENST00000674127.2:c.*669C>G (GLA) ENSP00000501044.2:n.*669C>G
ENST00000674142.1:n.1421+49C>G (GLA)
ENST00000675592.1:c.968C>G (GLA) ENSP00000502239.1:p.Pro323Arg
ENST00000675799.1:c.*691C>G (GLA) ENSP00000502661.1:n.*691C>G
ENST00000675968.1:n.4037C>G (GLA)
ENST00000676156.1:c.1130C>G (GLA) ENSP00000501730.1:p.Pro377Arg
ENST00000676372.1:c.1232C>G (GLA) ENSP00000502805.1:n.1232C>G
ENST00000710365.1:c.1241C>G (GLA) ENSP00000518234.1:p.Pro414Arg
XR_938397.1:n.1251C>G (GLA)
XR_938397.2:n.1272C>G (GLA)